Disease #05109

Official abbreviation JBTS
Name Joubert syndrome (JBTS)
OMIM ID -
Inheritance -
Individuals reported having this disease 144
Phenotype entries for this disease 95
Associated with 3 genes AHI1, ARMC9, CEP290
Associated tissues -
Disease features -
Remarks -


Individuals

144 entries on 2 pages. Showing entries 1 - 100.
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00017647 - PubMed: Tuz 2014 - M no United States African American - 0 - - JBTS, SRTD-1 see paper;... CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017707 - PubMed: Tuz 2014 - ? ? Saudi Arabia Saudi - 0 - - JBTS see paper; ... CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017792 - PubMed: Tuz 2014 - ? ? ? (unknown) European - 0 - - JBTS, SRTD-1 see paper; gastrostomy tube, third-nerve palsy, Ptosis, Retina, nystagmus, oculomotor apraxia, Apnea, Tachypnea,... CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017793 - PubMed: Tuz 2014 - ? ? ? (unknown) European - 0 - - JBTS, SRTD-1 see paper; ... CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017794 - PubMed: Tuz 2014 - ? no Brazil Brazillian - 0 - - JBTS see paper; ... CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017795 - PubMed: Tuz 2014 - ? no Brazil Brazillian - 0 - - JBTS see paper; ... CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017796 - PubMed: Tuz 2014 - ? ? Turkey Turkish - 0 - - JBTS - CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017801 - PubMed: Tuz 2014 - ? ? China Chinese - 0 - - JBTS Hearing Loss, Ptosis, Tachypnea CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017802 - PubMed: Tuz 2014 - ? ? Turkey Turkish - 0 - - JBTS Ptosis, liver fibrosis on biopsy, splenomegaly, elevated transaminases, chronic sinusitis CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017803 - PubMed: Tuz 2014 - ? ? Turkey Turkish - 0 - - JBTS Ptosis, elevated transaminases, chronic sinusitis CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017804 - PubMed: Tuz 2014 - ? ? Turkey Turkish - 0 - - JBTS Apnea or Tachypnea, Ptosis, cleft palate, hypertelorism CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017805 - PubMed: Tuz 2014 - ? ? - (not applicable) European - 0 - - JBTS Tachipnea, Retina, Ptosis, Nystagmus, High-arched palate CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017806 - PubMed: Tuz 2014 2-generation family, 2 affected, unaffected heterozygous carrier parents ? ? ? (unknown) European, north - 0 - - JBTS 1x Tachypnea, obese, oculomotor apraxia 16y+9y CSPP1 CSPP1 2 2 Marianne Vos (LOVD-team)
00017807 - PubMed: Tuz 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents ? ? India Indian - 0 - - JBTS UW143-3 (5y):Tachypnea, Ptosis, hypertelorism, CPEO, mild left optic disc pallor UW143-4 (2y): hypertelorism, restricted upward gaze CSPP1 CSPP1 2 2 Marianne Vos (LOVD-team)
00017808 - PubMed: Tuz 2014 - ? ? Lebanon Lebanese - 0 - - JBTS Apnea or Tachypnea, Ptosis, Jeune asphyxiating thoracic dystrophy (short ribs, bell-shaped chest, pulmonary hypoplasia, abnormal iliac notches), nasogastric tube, Hearing Loss, high-arched palate CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017809 - PubMed: Tuz 2014 - ? ? Brazil Brazillian - 0 - - JBTS tachypnea or apnea, ptosis, oculomotor apraxia CSPP1 CSPP1 2 1 Marianne Vos (LOVD-team)
00017810 - PubMed: Tuz 2014 - ? ? India Indian - 0 - - JBTS ptosis CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017812 - PubMed: Shaheen 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia Saudi <00y00m00d 0 - - JBTS stillbirth 26w; hydranencephaly, a single nostril, and bilateral hyperechogenic kidneys, cephalocentesis, occipitofrontal circumference (OFC) of 39 cm; large fontanels and wide cranial sutures, occipital encephalocele, anophthalmia CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017813 - PubMed: Shaheen 2014 - F yes Saudi Arabia Arab <00y00m00d 0 - - JBTS stillborn 18; occipital encephalocele, bilateral hyperechogenic kidneys, partially fused eyes CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017814 - PubMed: Shaheen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Canada Hutterite, Schmiedeleut - 0 - - JBTS global developmental delay, hypotonia, ataxia, strabismus; neuroimaging confirmed presence molar tooth sign, otherwise healthy, history of racheoesophageal fistula (also seen healthy sister) CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00017815 - PubMed: Shaheen 2014 2-generation family, 2 affected, unaffected heterozygous carrier parents, sister of 24360803-Fam3PatII2 F yes Canada Schmiedeleut Hutterite 00y00m28d 0 - - JBTS died at 28d; birth respiratory distress, absent inferior cerebellar vermis, dysplastic superior cerebellar vermis, posterior fossa cyst communicating with the fourth ventricle, and a molar tooth sign secondary to thickened horizontal superior cerebellar peduncles and a reduced anteroposterior (AP) dimension of the mesencephalon CSPP1 CSPP1 1 2 Marianne Vos (LOVD-team)
00017816 - PubMed: Shaheen 2014 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Canada Hutterite, Schmiedeleut 00y00m24d 0 - - JBTS died at 3w, autopsy not performed, no clinical evidence renal malformations or other congenital anomalies; AP dimension of the mesencephalon was smaller than expected. The superior cerebellar peduncles were thick and had a more parallel configuration,giving rise to the molar tooth sign. The cerebellar vermis appeared hypoplastic, the medulla was mildly narrowed, and a mega cisterna magna was also seen CSPP1 CSPP1 1 1 Marianne Vos (LOVD-team)
00056048 - PubMed: Watson 2016, Journal: Watson 2016 - ? - United Kingdom (Great Britain) - - 0 - - JBTS Joubert syndrome - AHI1 1 1 Christopher Watson
00056049 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - JBTS Joubert syndrome - AHI1 1 1 Christopher Watson
00056054 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - JBTS Joubert syndrome - TCTN2 1 1 Christopher Watson
00056381 IV-10 - - M yes Pakistan Pashton - 0 - - JBTS Joubert syndrome like phenotype MKS1 MKS1 1 1 Irfan Ullah
00058534 - - - F yes China HAN - 0 - - JBTS - TCTN1 TCTN1 1 1 Jiang Wenting
00058535 - - - M yes China Han - 0 - - JBTS - TCTN1 TCTN1 1 1 Jiang Wenting
00058830 - - - F yes Italy - - 0 - - JBTS She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Midly ventriculomegaly CEP120 CEP120 1 1 Enza Maria Valente
00058831 - - - M no United States - - 0 - - JBTS He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual, abnormal ocular movements were observed in this proband. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CC hypoplasia CEP120 CEP120 2 1 Enza Maria Valente
00058832 - - - M yes Palestine - - 0 - - JBTS He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CEP120 CEP120 1 1 Enza Maria Valente
00058833 - - - F no India - - 0 - - JBTS She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Strabismus is reported. CEP120 CEP120 2 1 Enza Maria Valente
00058835 - - fetus, terminated pregnancy M no Belgium - <00y00m00d 0 - - JBTS Fetus (SW-476410) was diagnosed in utero with tecto-cerebellar dysraphia with occipital encephalocele findings in the spectrum of JS, due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the MTS. In addition, post-mortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of limbs. Liver and kidneys were normal, and no polydactyly was observed. CEP120 CEP120 2 1 Enza Maria Valente
00103638 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; breathing abnormality; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103639 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, ? syndactyly left hand C5orf42 C5orf42 2 1 Johan den Dunnen
00103640 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103641 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality C5orf42 C5orf42 2 1 Johan den Dunnen
00103642 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103643 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, preaxial and postaxial polydactyly fo the four limbs C5orf42 C5orf42 2 1 Johan den Dunnen
00103644 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103645 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103646 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103647 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; molar tooth sign C5orf42 C5orf42 2 1 Johan den Dunnen
00103648 - - - - yes Saudi Arabia - - 0 - - JBTS - C5orf42 C5orf42 1 1 Anas M Alazami
00103650 - - - M - - - - 0 - - JBTS - C5orf42 C5orf42 2 1 Anita Rauch
00103651 - - - - - - - - 0 - - JBTS - C5orf42 C5orf42 2 1 Anita Rauch
00103652 - - - - - - - - 0 - - JBTS - C5orf42 C5orf42 2 1 Anita Rauch
00103653 - - - - - - - - 0 - - JBTS - C5orf42 C5orf42 2 1 Anita Rauch
00103967 - - - M yes Italy - - 0 - - JBTS Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia SUFU SUFU 1 1 Enza Maria Valente
00103968 - - - F yes Italy - - 0 - - JBTS phenotype details: Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia SUFU SUFU 1 1 Enza Maria Valente
00104077 - - - M yes Egypt - - 0 - - JBTS Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; right hand Postaxial polydactyly; global macrosomia; Neurodevelopmental delay; Dysarthria; Gait ataxia SUFU SUFU 1 1 Enza Maria Valente
00104268 - - - F yes Egypt - - 0 - - JBTS Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; Neurodevelopmental delay; Dysarthria; Gait ataxia SUFU SUFU 1 1 Enza Maria Valente
00105223 - - family, 3 affected individuals - yes Pakistan Pathan (Pashtoon) - 0 - - JBTS - ARL13B ARL13B 1 3 Rafiullah Rafiullah
00105224 - - family, 2 affected individuals - yes Pakistan Pathan (Pashtoon) - 0 - - JBTS - ARL13B ARL13B 1 2 Rafiullah Rafiullah
00163996 26477546-Fam472 PubMed: Srour 2015 2-generation family, 2 affected bothers, unaffected heterozygous carrier parents M no Canada French Canadian - 0 - - JBTS see paper; ... C2CD3 C2CD3 2 2 Johan den Dunnen
00179519 JBTS_Fam1_II_5 - - M yes Saudi Arabia - >05y 0 - - JBTS Developmental delay, ataxia Ptosis, rod cone dystrophy, night blindness, bilateral visual pathway involvement Left multicystic dysplastic kidney, right grade I hydronephrosis Single palmar crease, pectus carinatum, normal Auditory Brainstem Response - ARL3 1 1 John Sayer
00179520 JBTS_Fam2_II_1 - - F - Pakistan - >21y 0 - - JBTS Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Recurrent UTI Renal scarring bilaterally Thermoregulation problems; episode of transverse myelitis - ARL3 1 3 John Sayer
00179521 JBTS_Fam2_II_4 - - F yes Pakistan - >12y 0 - - JBTS Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Normal renal USS Thermoregulation problems; sleep apnoea - ARL3 1 1 John Sayer
00179522 JBTS_Fam2_II_5 - - F yes Pakistan - >09y 0 - - JBTS Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia Recurrent UTI Unequal kidney size - ARL3 1 1 John Sayer
00204378 - - - ? - - New Zealander - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204379 - - - ? - - New Zealander - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204380 - - MKS and JSRDs coexisted in the same sibship M - - Turkish - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204381 - - MKS and JSRDs coexisted in the same sibship M - - Turkish - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204410 - PubMed: Valente 2003 - M - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204411 - PubMed: Valente 2003 - M - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204412 - PubMed: Valente 2003 - F - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204413 - PubMed: Valente 2003 - F - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204414 - PubMed: Valente 2003 - F - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204415 - PubMed: Valente 2003 - F - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204416 - PubMed: Valente 2003 - M - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204417 - PubMed: Valente 2003 - M - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204418 - - - F - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204419 - - - F - - Italian - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204420 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204421 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204422 - - Fetus ? - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204423 - - Fetus ? - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204424 - - - M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204425 - - - M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204426 - - - M - - Europe - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204427 - - - M - - Europe - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204428 - - - F - - Europe - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204429 - - - F - - Europe - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204430 - - - M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204431 - - - M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204432 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204433 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204434 - - - ? - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204435 - - Fetus ? - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204436 - - Fetus F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204437 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204438 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204439 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204440 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204441 - - - F - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204442 - - Fetus ? - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 2 -
00204443 - - Fetus ? - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 2 -
00204444 - - - M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204445 - - - M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
00204446 - - cousin M - - Ashkenazi - 0 - - JBTS - TMEM216 TMEM216 1 1 -
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